ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573093099
Gene: POMGNT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
285192
ClinVar RCV Id:
RCV000324220
RCV000763934
RCV001855150
RCV003888676
RCV002518961
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060209.4:p.Ile337Thr
CA833537
NM_017739.4:c.1010T>C